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Hello! Guest! Please Login or Register! Clinician Mode

Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Hearing Loss Disease Portal

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Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes

Disease Browser
Parent Node: Abnormalities, Multiple (D000015)
Parent Node: Heart Defects, Congenital (D006330)
Parent Node: Hydrocolpos (D052202)
Parent Node: Polydactyly (D017689)
Parent Node: Uterine Diseases (D014591)
..Starting node ..McKusick Kaufman syndrome (C538159)
Child Nodes:
Sister Nodes:
..Adenomyosis (D062788)
..Endometrial Hyperplasia (D004714)
..Endometritis (D004716)
..Hematometra (D006409)
..McKusick Kaufman syndrome (C538159)
..Progesterone Resistance (C564871)
..Pyometra (D055112)
..Uterine Cervical Diseases (D002577) 12
..Uterine Hemorrhage (D014592) 3
..Uterine Inversion (D019687)
..Uterine Neoplasms (D014594) 13
..Uterine Prolapse (D014596)
..Uterine Retroversion (D060725)
..Uterine Rupture (D014597) 1
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

6853

Name:

McKusick Kaufman syndrome

Definition:

Alternative IDs:

OMIM:236700

ParentIDs:

MESH:D000015|MESH:D006330|MESH:D014591|MESH:D017689|MESH:D052202

TreeNumbers:

C05.660.585.600/C538159 |C13.351.500.852/C538159 |C13.351.500.894.500/C538159 |C14.240.400/C538159 |C14.280.400/C538159 |C16.131.077/C538159 |C16.131.240.400/C538159 |C16.131.621.585.600/C538159

Synonyms:

Slim Mappings:

Cardiovascular disease|Congenital abnormality|Musculoskeletal disease|Urogenital disease (female)

Reference:

MedGen: C538159
MeSH: C538159
OMIM: 236700;

Genes: MKKS;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0030680	Abnormality of cardiovascular system morphology
3	HP:0002251	Aganglionic megacolon
4	HP:0002023	Anal atresia
5	HP:0001374	Congenital hip dislocation
6	HP:0000028	Cryptorchidism
7	HP:0000969	Edema
8	HP:0030010	Hydrometrocolpos
9	HP:0000126	Hydronephrosis
10	HP:0000072	Hydroureter
11	HP:0006159	Mesoaxial hand polydactyly
12	HP:0010741	Pedal edema
13	HP:0000113	Polycystic kidney dysplasia
14	HP:0001162	Postaxial hand polydactyly
15	HP:0002089	Pulmonary hypoplasia
16	HP:0000143	Rectovaginal fistula
17	HP:0001159	Syndactyly
18	HP:0000145	Transverse vaginal septum
19	HP:0000148	Vaginal atresia
20	HP:0001586	Vesicovaginal fistula

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_c	HGVS_p	HGVS_g	OtherIDs	Disease_ClinVar
NM_018848.3(MKKS):c.1553G>A (p.Arg518His)	8195	MKKS	Likely benign	149051148	RCV000198569;	N	MedGen:C0752166,OMIM:209900,ORPHA:110,SNOMED CT:5619004; MedGen:C0948368,OMIM:236700,ORPHA:2473	20	10386055	10386055	NM_018848.3:c.1553G>A	NP_061336.1:p.Arg518His	NC_000020.10:g.10386055C>T	-	C0752166 209900 Bardet-Biedl syndrome; C0948368 236700 McKusick Kaufman syndrome
NM_170784.2(MKKS):c.724G>T (p.Ala242Ser)	8195	MKKS	Pathogenic;Uncertain significance	74315394	RCV000005632; RCV000153503;	N	MedGen:C0948368,OMIM:236700,ORPHA:2473; MedGen:CN221809	20	10393439	10393439	NM_170784.2:c.724G>T	NP_740754.1:p.Ala242Ser	NC_000020.10:g.10393439C>A	HGMD:CM001242,OMIM Allelic Variant:604896.0001	C0948368 236700 McKusick Kaufman syndrome; CN221809 not provided
NM_170784.2(MKKS):c.724G>T (p.Ala242Ser)	8195	MKKS	Pathogenic;Uncertain significance	74315394	RCV000005632; RCV000153503;	N	MedGen:C0948368,OMIM:236700,ORPHA:2473; MedGen:CN221809	20	10393439	10393439	NM_170784.2:c.724G>T	NP_740754.1:p.Ala242Ser	NC_000020.10:g.10393439C>A	HGMD:CM001242,OMIM Allelic Variant:604896.0001	C0948368 236700 McKusick Kaufman syndrome; CN221809 not provided
NM_018848.3(MKKS):c.425T>C (p.Val142Ala)	8195	MKKS	Uncertain significance	863224773	RCV000196621;	N	MedGen:C0752166,OMIM:209900,ORPHA:110,SNOMED CT:5619004; MedGen:C0948368,OMIM:236700,ORPHA:2473	20	10393738	10393738	NM_018848.3:c.425T>C	NP_061336.1:p.Val142Ala	NC_000020.10:g.10393738A>G	-	C0752166 209900 Bardet-Biedl syndrome; C0948368 236700 McKusick Kaufman syndrome
NM_170784.2(MKKS):c.250C>T (p.His84Tyr)	8195	MKKS	Pathogenic	281797258	RCV000005632;	N	MedGen:C0948368,OMIM:236700,ORPHA:2473	20	10393913	10393913	NM_170784.2:c.250C>T	NP_740754.1:p.His84Tyr	NC_000020.10:g.10393913G>A	OMIM Allelic Variant:604896.0001,OMIM Allelic Variant:604896.0002	C0948368 236700 McKusick Kaufman syndrome; CN221809 not provided
NM_170784.2(MKKS):c.110A>G (p.Tyr37Cys)	8195	MKKS	Pathogenic	74315396	RCV000005633; RCV000005634; RCV000144678;	N	MedGen:C0948368,OMIM:236700,ORPHA:2473; MedGen:C1858054,OMIM:605231; MedGen:C4016908	20	10394053	10394053	NM_170784.2:c.110A>G	NP_740754.1:p.Tyr37Cys	NC_000020.10:g.10394053T>C	OMIM Allelic Variant:604896.0003	C4016908 Bardet-biedl syndrome 2/6, digenic; C1858054 605231 Bardet-Biedl syndrome 6; C0948368 236700 McKusick Kaufman syndrome